Variant report

Variant	rs60287468
Chromosome Location	chr1:153523492-153523493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:153523377-153523634	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:153522989-153525739	K562	blood:	n/a	n/a
3	RUNX3	chr1:153523292-153523738	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:153517452-153526571	MCF10A-Er-Src	breast:	n/a	n/a
5	RUNX3	chr1:153523337-153523680	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153508236..153509740-chr1:153522237..153524623,2	K562	blood:
2	chr1:153522864..153527279-chr1:153528529..153531164,4	K562	blood:
3	chr1:153523096..153524724-chr1:153583909..153585635,2	MCF-7	breast:
4	chr1:153522267..153525133-chr1:153537337..153540137,3	MCF-7	breast:
5	chr1:153511594..153513474-chr1:153523017..153524733,2	K562	blood:
6	chr1:153504382..153507280-chr1:153522086..153523762,2	K562	blood:

No data

Variant related genes	Relation type
S100A4	TF binding region
S100A3	TF binding region
ENSG00000197956	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000238279	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1047325	0.94[EUR][1000 genomes]
rs1050923	0.97[EUR][1000 genomes]
rs11488669	0.94[EUR][1000 genomes]
rs16835437	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16835455	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28452456	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28548347	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594230	0.94[EUR][1000 genomes]
rs28689606	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28718953	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36022742	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3762268	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41265162	0.97[EUR][1000 genomes]
rs41265164	0.97[EUR][1000 genomes]
rs4595398	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55955983	0.97[EUR][1000 genomes]
rs56043239	0.97[EUR][1000 genomes]
rs56057245	0.87[EUR][1000 genomes]
rs56089062	0.97[EUR][1000 genomes]
rs56350425	0.97[EUR][1000 genomes]
rs56838169	0.97[EUR][1000 genomes]
rs57024596	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58056804	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58072118	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59376279	0.97[EUR][1000 genomes]
rs60218214	0.97[EUR][1000 genomes]
rs60969679	0.84[EUR][1000 genomes]
rs61265945	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61558997	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6427301	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671398	0.91[EUR][1000 genomes]
rs6700310	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026350	0.97[EUR][1000 genomes]
rs74115473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115476	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535476	0.81[EUR][1000 genomes]
rs8401	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153517400-153524000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:153518200-153524000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:153518200-153524000	Enhancers	K562	blood
5	chr1:153518400-153523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:153518600-153523600	Enhancers	Fetal Thymus	thymus
7	chr1:153518600-153524000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:153518600-153524000	Enhancers	Placenta	Placenta
9	chr1:153518600-153524200	Enhancers	Lung	lung
10	chr1:153518800-153524200	Enhancers	Esophagus	oesophagus
11	chr1:153519000-153524400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:153519200-153524000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:153519200-153524200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:153519200-153524400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:153519400-153523600	Enhancers	Fetal Muscle Leg	muscle
16	chr1:153519400-153526000	Weak transcription	Aorta	Aorta
17	chr1:153519800-153523600	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:153520000-153523600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:153520000-153529400	Genic enhancers	HMEC	breast
20	chr1:153520200-153524200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:153520400-153524200	Enhancers	Adipose Nuclei	Adipose
22	chr1:153521000-153523600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:153521200-153524000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:153521400-153524200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:153521400-153524400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:153521800-153525600	Weak transcription	Fetal Heart	heart
27	chr1:153521800-153526400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:153522000-153525600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:153522200-153523800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:153522200-153524000	Enhancers	Primary B cells from cord blood	blood
31	chr1:153522200-153524000	Genic enhancers	NHEK	skin
32	chr1:153522200-153525600	Weak transcription	Ovary	ovary
33	chr1:153522400-153523600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:153522400-153524000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:153522400-153524000	Enhancers	A549	lung
36	chr1:153522400-153525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:153522400-153526200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:153522400-153526200	Weak transcription	Stomach Mucosa	stomach
39	chr1:153522600-153524200	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:153522600-153524200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:153522600-153524200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:153522600-153525600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:153522600-153525800	Weak transcription	Osteobl	bone
44	chr1:153522600-153526000	Weak transcription	HUVEC	blood vessel
45	chr1:153522600-153526200	Weak transcription	NH-A	brain
46	chr1:153522600-153526400	Weak transcription	Fetal Stomach	stomach
47	chr1:153522600-153526400	Weak transcription	Pancreas	Pancrea
48	chr1:153522600-153538000	Weak transcription	Colonic Mucosa	Colon
49	chr1:153522800-153524800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:153522800-153524800	Weak transcription	NHLF	lung

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